A child with night blindness: preventing serious symptoms of Refsum disease.
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A child with night blindness: preventing serious symptoms of Refsum disease. / Kohlschütter, Alfried; Santer, René; Lukacs, Zoltan; Altenburg, Christiane; Kemper, Markus J.; Rüther, Klaus.
in: J CHILD NEUROL, Jahrgang 27, Nr. 5, 5, 2012, S. 654-656.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - A child with night blindness: preventing serious symptoms of Refsum disease.
AU - Kohlschütter, Alfried
AU - Santer, René
AU - Lukacs, Zoltan
AU - Altenburg, Christiane
AU - Kemper, Markus J.
AU - Rüther, Klaus
PY - 2012
Y1 - 2012
N2 - Refsum disease is a genetic progressive neurological disorder caused by neurotoxic phytanic acid, a nutritional component patients are unable to metabolize. Symptoms include retinopathy, polyneuropathy, ataxia, and deafness. They are variable and rarely recognized before adulthood. The authors report the case of a 14-year-old girl diagnosed because of night blindness. They treated her with a phytanic acid-poor diet and extracorporeal lipid apheresis. They used different methods over a 30-month period. Thereafter, the patient was treated with diet only. Membrane filtration and heparin-induced extracorporeal low-density lipoprotein precipitation apheresis were well tolerated. Withdrawal of phytanic acid was studied quantitatively. During a 5-year period, blood phytanic acid levels decreased to a noncritical range. The patient remained free of ophthalmological and neurological progression for a total observation of 12 years. Early diagnosis and effective measures to keep the phytanic acid load low can probably prevent the serious sequelae of Refsum disease. Developing a method for newborn screening is desirable.
AB - Refsum disease is a genetic progressive neurological disorder caused by neurotoxic phytanic acid, a nutritional component patients are unable to metabolize. Symptoms include retinopathy, polyneuropathy, ataxia, and deafness. They are variable and rarely recognized before adulthood. The authors report the case of a 14-year-old girl diagnosed because of night blindness. They treated her with a phytanic acid-poor diet and extracorporeal lipid apheresis. They used different methods over a 30-month period. Thereafter, the patient was treated with diet only. Membrane filtration and heparin-induced extracorporeal low-density lipoprotein precipitation apheresis were well tolerated. Withdrawal of phytanic acid was studied quantitatively. During a 5-year period, blood phytanic acid levels decreased to a noncritical range. The patient remained free of ophthalmological and neurological progression for a total observation of 12 years. Early diagnosis and effective measures to keep the phytanic acid load low can probably prevent the serious sequelae of Refsum disease. Developing a method for newborn screening is desirable.
M3 - SCORING: Journal article
VL - 27
SP - 654
EP - 656
JO - J CHILD NEUROL
JF - J CHILD NEUROL
SN - 0883-0738
IS - 5
M1 - 5
ER -
